MDR3 mutations associated with intrahepatic and gallbladder cholesterol cholelithiasis: an update
Journal Title: Annals of Hepatology - Year 2007, Vol 6, Issue 3
Abstract
Background: The recurrent microlithiasis represents one of the most frequent clinical forms of lithiasis of the bile ducts. This affection is characterized by the presence of cholesterolic microgallstones on hepatic canaliculars, and belongs to a heterogeneous group of autosomal recessive liver disorders. Radiological diagnosis can be confirmed by analysis of MDR3 gene, coding a protein involved in physiologic translocation of phospholipids in bile. Discovery of MDR3 mutations is of particular interest, since normally associated with good effectiveness of medication by ursodesoxycholic acid. AIM: To review MDR3 mutations in humans associated with recurrent cholesterol microlithiasis and to suggest a practical approach for MDR3 gene analysis.Results: 48 mutations of MDR3 gene have been reported in humans to date, from which 43 (89.5%) in the coding region, and 5 splice site mutations have been associated to cholesterol cholelithiasis. 21 (43.8%) of the 43 precited mutations are located in only 8 exons on 28, near transmembrane or nucleotide binding domains of the protein. From the 22 remaining described mutations, 9 (18.8%) are restricted to exon 14. We suggest therefore to start analysis of MDR3 gene by screening exons 6, 7, 9, 10, 12, 14, 17, 23 and 24 with an appropriate protocol in this diagnosis associated with effective treatment. In conclusion such therapeutic orientation is valuable, since recurrent cholesterolic microlithiasis occurs relatively early in life, and by the fact that recurrence of symptoms may occur despite cholecystectomy, or shock-wave therapy.
Authors and Affiliations
Elvire Mbongo-Kama, Florence Harnois, Didier Mennecier, Eleonore Leclercq, Pascal Burnat, Franck Ceppa
Keywords
Related Articles
- EP ID EP77777
- DOI -
- Views 146
- Downloads 0
Trans-arterial 90yttrium radioembolization for patients with unresectable tumors originating from the biliary tree
Patients with malignant tumors originating from the biliary tree have a poor prognosis, since only a minority of tumors can be resected and most palliative regimens have shown only limited success. We present two patient...
NISCH syndrome with hypothyroxinemia
Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by ichthyosis, sclerosing cholangitis and alopecia. Only 5 patients have been described till now. We repor...
Clinical course and management of acute hepatitis A infection in adults
Background. Hepatitis A is the most common type of viral hepatitis in Mexico. The change of hepatitis A epidemiology in Mexico from high to intermediate endemicity leads to increasing susceptible adults for severe illn...
Subzero nonfreezing storage of rat hepatocytes using modified University of Wisconsin solution (mUW) and 1,4-butanediol. I- effects on cellular metabolites during cold storage
Various cryopreservation techniques have been investigated to extend the storage of isolated hepatocytes; however, most have a reduced viability after rewarming due to ice crystal formation. Subzero nonfreezing condition...
What constitutes liver failure after transjugular intrahepatic portosystemic shunt creation? A proposed definition and grading system
Background and rationale for the study. There is currently no definition of post-transjugular intrahepatic portosystemic shunt(TIPS) liver failure (PTLF), which constitutes a barrier to standardization of TIPS results r...